ClinVar Miner

List of variants in gene PSAP studied for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) rs759402008 0.00014
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) rs772161921 0.00005
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) rs143773764 0.00003
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) rs754680319 0.00002
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) rs761967647 0.00002
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) rs147030327 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002778.4(PSAP):c.1192+6C>T
NM_002778.4(PSAP):c.1238A>G (p.Lys413Arg)
NM_002778.4(PSAP):c.1266C>G (p.Asn422Lys)
NM_002778.4(PSAP):c.1316G>T (p.Gly439Val)
NM_002778.4(PSAP):c.1350G>A (p.Gln450=)
NM_002778.4(PSAP):c.138G>T (p.Lys46Asn)
NM_002778.4(PSAP):c.196T>G (p.Cys66Gly)
NM_002778.4(PSAP):c.227T>C (p.Met76Thr)
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn) rs1554881272
NM_002778.4(PSAP):c.503T>C (p.Val168Ala) rs773142808
NM_002778.4(PSAP):c.538T>C (p.Tyr180His)
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys)
NM_002778.4(PSAP):c.697C>G (p.Leu233Val)
NM_002778.4(PSAP):c.718A>G (p.Ile240Val)
NM_002778.4(PSAP):c.802G>A (p.Val268Ile)

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